Canonical Allele Identifier: CA343263607

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.160314000T>G , CM000663.2:g.160314000T>G GRCh38
NC_000001.10:g.160283790T>G , CM000663.1:g.160283790T>G GRCh37
NC_000001.9:g.158550414T>G NCBI36
NG_050927.1:g.34565A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000696202.1:n.504A>C (COPA)
ENST00000696203.1:n.3316A>C (COPA)
ENST00000696204.1:n.3523A>C (COPA)
ENST00000696206.1:n.603A>C (COPA)
ENST00000696207.1:n.829A>C (COPA)
ENST00000696208.1:n.935A>C (COPA)
ENST00000696209.1:n.1228A>C (COPA)
ENST00000696210.1:n.1228A>C (COPA)
ENST00000696211.1:n.1228A>C (COPA)
ENST00000696212.1:n.3516A>C (COPA)
ENST00000696213.1:n.1959A>C (COPA)
ENST00000696214.1:n.3542A>C (COPA)
ENST00000696215.1:n.935A>C (COPA)
ENST00000241704.8:c.832A>C (COPA) MANE Select ENSP00000241704.7:p.Met278Leu
ENST00000647683.1:c.832A>C (COPA) ENSP00000497495.1:p.Met278Leu
ENST00000647693.1:n.1916A>C (COPA)
ENST00000647799.1:c.*269A>C (COPA) ENSP00000497970.1:n.*269A>C
ENST00000647899.1:c.351A>C (COPA)
ENST00000648501.1:c.316-833A>C (COPA)
ENST00000648805.1:c.832A>C (COPA) ENSP00000497433.1:p.Met278Leu
ENST00000649231.1:c.832A>C (COPA) ENSP00000498061.1:p.Met278Leu
ENST00000649676.1:c.379A>C (COPA) ENSP00000497257.1:p.Met127Leu
ENST00000649787.1:c.832A>C (COPA) ENSP00000497231.1:p.Met278Leu
ENST00000649963.1:c.*521A>C (COPA) ENSP00000498129.1:n.*521A>C
ENST00000650154.1:c.*269A>C (COPA) ENSP00000497094.1:n.*269A>C
ENST00000241704.7:c.832A>C (COPA) ENSP00000241704.7:p.Met278Leu
ENST00000368069.7:c.832A>C (COPA) ENSP00000357048.3:p.Met278Leu
NM_001098398.1:c.832A>C (COPA) NP_001091868.1:p.Met278Leu
NM_004371.3:c.832A>C (COPA) NP_004362.2:p.Met278Leu
XM_011509584.1:c.-176+27409T>G (NHLH1) XP_011507886.1:n.-176+27409T>G
NM_001098398.2:c.832A>C (COPA) NP_001091868.1:p.Met278Leu
NM_004371.4:c.832A>C (COPA) MANE Select NP_004362.2:p.Met278Leu